Submissions for variant NM_001999.4(FBN2):c.4311C>T (p.Ser1437=)

gnomAD frequency: 0.00011  dbSNP: rs138665246

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002311203	SCV000320528	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-12-02	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV001579889	SCV000528177	likely benign	not provided	2019-05-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000633617	SCV000754866	likely benign	Congenital contractural arachnodactyly	2025-01-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579889	SCV001808874	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579889	SCV001968295	likely benign	not provided		no assertion criteria provided	clinical testing